|Year : 2022 | Volume
| Issue : 1 | Page : 265-266
Absent pupillary aperture
Mousumi Banerjee, Kumar Bhawesh, Shorya V Azad
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, AIIMS, New Delhi, India
|Date of Submission||03-Jun-2021|
|Date of Acceptance||25-Aug-2021|
|Date of Web Publication||07-Jan-2022|
Dr. Shorya V Azad
Dr. R. P. Centre, AIIMS, New Delhi - 110 029
Source of Support: None, Conflict of Interest: None
Keywords: Absent pupillary aperture, acorea, iris coloboma, ptosis
|How to cite this article:|
Banerjee M, Bhawesh K, Azad SV. Absent pupillary aperture. Indian J Ophthalmol Case Rep 2022;2:265-6
A 10-year-old boy presented with Type II irido-fundal coloboma OD with acorea OS [Figure 1]a, [Figure 1]b, [Figure 1]c, [Figure 1]d and microphthalmos OU. The corneal diameters were 10.5 mm in horizontal meridian and 10 mm in vertical meridian OU. Simple congenital ptosis with the absence of lid crease was seen OS [Figure 2]a. Levator function was 10 mm OD and 1 mm OS. The best-corrected visual acuity of 6/60 was documented in the right eye with no perception of light OS. Wide-open angles [Figure 2]b and an anechoic scan were noted OS on AS-OCT and B-scan ultrasonography, respectively. Ultrasound biomicroscopy OS revealed a normal anterior chamber with no pupillary aperture and a swollen crystalline lens [Figure 2]c. An axial length of 19 mm was documented OU. Systemic examination did not reveal any other abnormalities on pediatric evaluation. No surgical intervention was planned as the patient denied perception of light.
|Figure 1: Slit-lamp examination depicting an iris coloboma in right eye (a) and acorea in the left eye with beam of light appreciated nasally (b). (c and d) depicts the absence of pupillary aperture OS with beam of light at the center and temporally, respectively|
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|Figure 2: Left eye with severe congenital simple ptosis with poorly developed lid crease (a). AS-OCT of the left eye showing open angles (b). Ultrasound biomicroscopy (UBM) of the left eye showing a well-formed anterior chamber with a swollen cataractous lens with no pupillary aperture (c)|
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| Discussion|| |
Acorea is defined as the absence of pupillary aperture. Although similar to microcoria and persistent pupillary membrane, it can affect vision more severely than either of the two. A previous paper of a single family reported an autosomal dominant inheritance with genetic linkage studies showing the location of possible genes to be chromosomes 1, 5, 8, 11, and 17. However, screening of parents and other three siblings of our patient did not reveal any ocular abnormalities. There was no history of consanguinity in the family. Common associations noted with acorea are microphthalmos, cataract, and iridocorneal dysgenesis.. A differential of congenital cataracts, facial dysmorphism neuropathy was ruled out given a normal neurological finding, unilateral cataract without any facial dysmorphism.
Our patient had a spectrum of isolated ocular developmental anomalies (coloboma, microphthalmos, cataract, acorea, and ptosis) without any systemic associations. Although a few reports have described acorea in association with microphthalmos and cataract without systemic associations, severe congenital simple ptosis and contralateral coloboma have not been reported in the literature to date. Isolated cases of acorea can be dealt with a simple surgical approach of pupilloplasty done early. Intervention in such cases can decrease the chances of stimulus-deprived amblyopia and sensory strabismus.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Kondo H, Tahira T, Yamamoto K, Tawara A. Familial acorea, microphthalmia and cataract syndrome. Br J Ophthalmol 2013;97:1155-60.
Ramasubramanian S, Majumder PD. Acorea: A rare congenital anomaly. Indian J Ophthalmol 2018;66:450.
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